| 基因名 | 突变 |
|---|---|
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5993340C>T,c.1169G>A,p.R390H |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5993313T>C,c.1196A>G,p.E399G |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5987774G>T,c.1376C>A,p.T459K |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5987742G>A,c.1408C>T,p.R470W |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5969225G>C,c.1490C>G,p.P497R |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5965824G>C,c.1631C>G,p.A544G |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5965821C>T,c.1634G>A,p.G545D |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5965750G>C,c.1705C>G,p.Q569E |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5965740G>A,c.1715C>T,p.P572L |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5965455C>T,c.1852G>A,p.E618K |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5965427G>A,c.1880C>T,p.T627M |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5964854C>T,c.1966G>A,p.D656N |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5964799C>A,c.2021G>T,p.R674L |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5964781G>A,c.2039C>T,p.T680M |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5951029G>A,c.2203C>T,p.R735W |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5951013C>T,c.2219G>A,p.R740H |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5950939C>T,c.2293G>A,p.V765I |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5940266C>T,c.2519G>A,p.S840N |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5940254G>A,c.2531C>T,p.P844L |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5940243G>A,c.2542C>T,p.R848W |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5937283C>T,c.2687G>A,p.R896Q |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5937253C>T,c.2717G>A,p.R906H |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5935162A>T,c.2818-2T>A,p.940Acceptor |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5935159G>A,c.2819C>T,p.A940V |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5935112C>T,c.2866G>A,p.A956T |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5935097G>A,c.2881C>T,p.R961C |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5935085C>T,c.2893G>A,p.E965K |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5935076C>T,c.2902G>A,p.A968T |